Canonical Allele Identifier: CA952161984
Gene:

Linked Data

dbSNP Id: rs559042604
gnomAD v3: 12-115398731-G-A
gnomAD v4: 12-115398731-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115398731G>A , CM000674.2:g.115398731G>A GRCh38
NC_000012.11:g.115836536G>A , CM000674.1:g.115836536G>A GRCh37
NC_000012.10:g.114320919G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945389.1:n.697+8364C>T
XR_945389.2:n.701+8364C>T
Search 100 bp 5'
Search 100 bp 3'